RGD:13529470 Rat Genome Database

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Variant: RGD:13529470 -  Homo sapiens

RGD ID: 13529470
RS ID: rs763488230
ClinVar ID: CV504807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 22,028,583
GRCh38 12 21,875,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012819.1:g.66046G>A
NM_020297.2:c.2092+5G>A
NM_001377273.1:c.2092+5G>A
NM_005691.4:c.2092+5G>A
More... 		08/10/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ABCC9
Accession:XM_005253290
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_005691
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_001377274
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_011520545
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253288
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253289
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_001377273
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_020297
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000605752 CLINVAR
dbSNP (RS) rs763488230 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 601439 CLINVAR